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Volume 30; Issue 6
Main
Journal of Medical Genetics
Volume 30; Issue 6
Journal of Medical Genetics
Volume 30; Issue 6
1
A large family with patent ductus arteriosus and unusual face.
Davidson, H R
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 917 KB
Your tags:
english, 1993
2
Medical genetics: advances in brief
Norman, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 276 KB
Your tags:
english, 1993
3
The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus.
Grundbacher, F J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 812 KB
Your tags:
english, 1993
4
Medical genetics: advances in brief: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation
Thakker, N S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 276 KB
Your tags:
english, 1993
5
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
Wallis, G A
,
Sykes, B
,
Byers, P H
,
Mathew, C G
,
Viljoen, D
,
Beighton, P
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 897 KB
Your tags:
english, 1993
6
Practical Molecular Virology
Bangham, C. R M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 305 KB
Your tags:
english, 1993
7
Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
Morichon-Delvallez, N
,
Delezoide, A L
,
Vekemans, M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 960 KB
Your tags:
english, 1993
8
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.
Landels, E C
,
Green, P M
,
Ellis, I H
,
Fensom, A H
,
Kaback, M M
,
Lim-Steele, J
,
Zeiger, K
,
Levy, N
,
Bobrow, M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 493 KB
Your tags:
english, 1993
9
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?
de Die-Smulders, C E
,
Droog, R P
,
van Dijk, M
,
Fryns, J P
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 320 KB
Your tags:
english, 1993
10
Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.
Orozco, L
,
Salcedo, M
,
Lezana, J L
,
Chavez, M
,
Valdez, H
,
Moreno, M
,
Carnevale, A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 427 KB
Your tags:
english, 1993
11
A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
Sweatman, A
,
Lovering, R
,
Middleton-Price, H
,
Jones, A
,
Morgan, G
,
Levinsky, R
,
Kinnon, C
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 664 KB
Your tags:
english, 1993
12
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
Evans, D G
,
Ladusans, E J
,
Rimmer, S
,
Burnell, L D
,
Thakker, N
,
Farndon, P A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 942 KB
Your tags:
english, 1993
13
Weyers' ulnar ray/oligodactyly syndrome.
Lungarotti, M S
,
Calabro, A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 287 KB
Your tags:
english, 1993
14
Low segregation ratios in autosomal recessive disorders.
Bundey, S
,
Young, I D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 457 KB
Your tags:
english, 1993
15
Population studies of the fragile X: a molecular approach.
Jacobs, P A
,
Bullman, H
,
Macpherson, J
,
Youings, S
,
Rooney, V
,
Watson, A
,
Dennis, N R
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 958 KB
Your tags:
english, 1993
16
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
al-Gazali, L I
,
Khalil, M
,
Devadas, K
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.90 MB
Your tags:
english, 1993
17
Isolation of the defective gene in X linked agammaglobulinaemia.
Vetrie, D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 455 KB
Your tags:
english, 1993
18
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Dianzani, I
,
Howells, D W
,
Ponzone, A
,
Saleeba, J A
,
Smooker, P M
,
Cotton, R G
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1007 KB
Your tags:
english, 1993
19
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
Clayton-Smith, J
,
Webb, T
,
Cheng, X J
,
Pembrey, M E
,
Malcolm, S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 692 KB
Your tags:
english, 1993
20
Reply
Suthers, G. K
,
Davies, K. E
,
Huson, S. M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 286 KB
Your tags:
english, 1993
21
Medical genetics: advances in brief: Intellectual development at age of 12 years of children with congenital hypothyroidism diagnosed by neonatal screening
Fitzpatrick, D.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 276 KB
Your tags:
english, 1993
22
Cerebellar ataxia and ectodermal dysplasia in brothers.
Baraitser, M
,
Reardon, W
,
McShane, A
,
Wilson, J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 842 KB
Your tags:
english, 1993
23
Congenital nystagmus cosegregating with a balanced 7;15 translocation.
Patton, M A
,
Jeffery, S
,
Lee, N
,
Hogg, C
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 502 KB
Your tags:
english, 1993
24
Corrections
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1993
25
Molecular diagnosis of myotonic dystrophy.
Winter, R M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 286 KB
Your tags:
english, 1993
26
Our Genetic Future: The Science and Ethics of Genetic Technology
Clarke, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 305 KB
Your tags:
english, 1993
27
Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
Pericak-Vance, M A
,
Nunes, K J
,
Whisenant, E
,
Loeb, D B
,
Small, K W
,
Stajich, J M
,
Rimmler, J B
,
Yamaoka, L H
,
Smith, D I
,
Drabkin, H A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 947 KB
Your tags:
english, 1993
28
Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Wilkie, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 276 KB
Your tags:
english, 1993
29
Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.
Coleman, R
,
Genet, S A
,
Harper, J I
,
Wilkie, A O
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 769 KB
Your tags:
english, 1993
30
RFLP analysis for APP 717 mutations associated with Alzheimer's disease.
Zeldenrust, S R
,
Murrell, J
,
Farlow, M
,
Ghetti, B
,
Roses, A D
,
Benson, M D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 777 KB
Your tags:
english, 1993
31
Deletion 9p and sex reversal.
Bennett, C P
,
Docherty, Z
,
Robb, S A
,
Ramani, P
,
Hawkins, J R
,
Grant, D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 844 KB
Your tags:
english, 1993
32
Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients
Reardon, W
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 276 KB
Your tags:
english, 1993
33
Three patients with ring (X) chromosomes and a severe phenotype.
Dennis, N R
,
Collins, A L
,
Crolla, J A
,
Cockwell, A E
,
Fisher, A M
,
Jacobs, P A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.44 MB
Your tags:
english, 1993
34
Edward Meryon (1809-1880) and muscular dystrophy.
Emery, A E
,
Emery, M L
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 931 KB
Your tags:
english, 1993
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